Publications:

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Genetic Spectrum of Familial Hypercholesterolaemia in the Malaysian Community: Identification of Pathogenic Gene Variants Using Targeted Next-Generation Sequencing.

International Journal Of Molecular Sciences

Razman, Aimi Zafira AZ; Chua, Yung-An YA; Mohd Kasim, Noor Alicezah NA; Al-Khateeb, Alyaa A; Sheikh Abdul Kadir, Siti Hamimah SH; Jusoh, Siti Azma SA; Nawawi, Hapizah H; ,

Publication Date: 2022-11-29

Variant appearance in text: PCSK9: R499H

PubMed Link: 36499307

Variant Present in the following documents:

• Main text
• ijms-23-14971.pdf

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Pathogenic gain-of-function mutations in the prodomain and C-terminal domain of PCSK9 inhibit LDL binding.

Frontiers In Physiology

Sarkar, Samantha K SK; Matyas, Angela A; Asikhia, Ikhuosho I; Hu, Zhenkun Z; Golder, Mia M; Beehler, Kaitlyn K; Kosenko, Tanja T; Lagace, Thomas A TA

Publication Date: 2022

Variant appearance in text: PCSK9: R499H

PubMed Link: 36187800

Variant Present in the following documents:

• Main text
• fphys-13-960272.pdf

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Diabetes and Familial Hypercholesterolemia: Interplay between Lipid and Glucose Metabolism.

Nutrients

González-Lleó, Ana M AM; Sánchez-Hernández, Rosa María RM; Boronat, Mauro M; Wägner, Ana M AM

Publication Date: 2022-04-03

Variant appearance in text: PCSK9: Arg499His

PubMed Link: 35406116

Variant Present in the following documents:

• nutrients-14-01503.pdf

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A Systematic Approach to Assess the Activity and Classification of PCSK9 Variants.

International Journal Of Molecular Sciences

Uribe, Kepa B KB; Chemello, Kevin K; Larrea-Sebal, Asier A; Benito-Vicente, Asier A; Galicia-Garcia, Unai U; Bourane, Steeve S; Jaafar, Ali K AK; Lambert, Gilles G; Martín, César C

Publication Date: 2021-12-18

Variant appearance in text: PCSK9: Arg499His

PubMed Link: 34948399

Variant Present in the following documents:

• ijms-22-13602.pdf

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A Systematic Approach to Assess the Activity and Classification of PCSK9 Variants.

International Journal Of Molecular Sciences

Uribe, Kepa B KB; Chemello, Kevin K; Larrea-Sebal, Asier A; Benito-Vicente, Asier A; Galicia-Garcia, Unai U; Bourane, Steeve S; Jaafar, Ali K AK; Lambert, Gilles G; Martín, César C

Publication Date: 2021-12-18

Variant appearance in text: PCSK9: Arg499His

PubMed Link: 34948399

Variant Present in the following documents:

• ijms-22-13602.pdf

View BVdb publication page

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Regulation of PCSK9 Expression and Function: Mechanisms and Therapeutic Implications.

Frontiers In Cardiovascular Medicine

Xia, Xiao-Dan XD; Peng, Zhong-Sheng ZS; Gu, Hong-Mei HM; Wang, Maggie M; Wang, Gui-Qing GQ; Zhang, Da-Wei DW

Publication Date: 2021

Variant appearance in text: PCSK9: R499H

PubMed Link: 34782856

Variant Present in the following documents:

• Main text
• fcvm-08-764038.pdf

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PCSK9: A Multi-Faceted Protein That Is Involved in Cardiovascular Biology.

Biomedicines

Sundararaman, Sai Sahana SS; Döring, Yvonne Y; van der Vorst, Emiel P C EPC

Publication Date: 2021-07-08

Variant appearance in text: PCSK9: Arg499His

PubMed Link: 34356856

Variant Present in the following documents:

• Main text
• biomedicines-09-00793.pdf

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Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.

Clinical Genetics

Di Taranto, Maria Donata MD; Giacobbe, Carola C; Palma, Daniela D; Iannuzzo, Gabriella G; Gentile, Marco M; Calcaterra, Ilenia I; Guardamagna, Ornella O; Auricchio, Renata R; Di Minno, Matteo Nicola Dario MND; Fortunato, Giuliana G

Publication Date: 2021-11

Variant appearance in text: PCSK9: 1496G>A; Arg499His; rs143394031

PubMed Link: 34297352

Variant Present in the following documents:

• Main text
• CGE-100-529.pdf

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Lipoprotein metabolism in familial hypercholesterolemia.

Journal Of Lipid Research

Chemello, Kévin K; García-Nafría, Javier J; Gallo, Antonio A; Martín, Cesar C; Lambert, Gilles G; Blom, Dirk D

Publication Date: 2021

Variant appearance in text: PCSK9: Arg499His

PubMed Link: 33675717

Variant Present in the following documents:

• main.pdf

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Lipoprotein metabolism in familial hypercholesterolemia.

Journal Of Lipid Research

Chemello, Kévin K; García-Nafría, Javier J; Gallo, Antonio A; Martín, Cesar C; Lambert, Gilles G; Blom, Dirk D

Publication Date: 2021-03-03

Variant appearance in text: PCSK9: Arg499His

PubMed Link: 33675717

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.

Frontiers In Genetics

Guo, Qianyun Q; Feng, Xunxun X; Zhou, Yujie Y

Publication Date: 2020

Variant appearance in text: PCSK9: R499H

PubMed Link: 33173529

Variant Present in the following documents:

• Main text
• fgene-11-01020.pdf

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